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Molecular Mechanisms Underpinning the Development of Obesity pp 9–21Cite as

Monogenic Forms of Obesity

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Abstract

Obesity, defined as an excess fat mass, results from individual genetic and biological susceptibilities in response to the current weight-gain promoting environment with a synergistic relationship between genes and environment. The phenotypic expression of genetic factors involved in obesity is variable, allowing to distinguish several clinical presentations of obesity depending on the involved genes. Monogenic obesities are defined as rare and severe early-onset obesity associated with abnormal feeding behaviour and endocrine disorders. They are mainly due to autosomal recessive mutations in genes of the leptin/melanocortin pathway that plays a key role in the hypothalamic control of food intake. However, since several years, additional genes implicated in the development of the hypothalamus and the central nervous system are regularly identified in rare cases of severe early-onset obesity associated to other signs as developmental delay. The new diagnosis tools, such as the whole-exome sequencing, will probably help to identify others genes involved in these extremes forms of obesity. Management of these patients is challenging. Indeed, specific treatments are available in only specific cases of monogenic obesity, such as leptin deficiency. However, new molecules acting on the leptin-melanocortin pathway are currently under development and data on bariatric surgery in patients with genetic obesity are limited and controversial.

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Author information

Authors and Affiliations

  1. Nutrition and Gastroenterology Department, Armand-Trousseau Hospital, 26 Avenue du Dr Arnold Netter, 75012, Paris, France

    Béatrice Dubern

  2. Institute of Cardiometabolism and Nutrition, ICAN, Pitié-Salpêtrière Hospital, 47-83 Boulevard de l’hôpital, 75013, Paris, France

    Hèléne Huvenne & Béatrice Dubern

  3. INSERM, UMR_S U1166, Nutriomics, Pitié-Salpêtrière Hospital, 47-83 Boulevard de l’hôpital, 75013, Paris, France

    Hèléne Huvenne & Béatrice Dubern

  4. Pediatrics Department, Saint-Vincent de Paul Hospital, Boulevard de Belfort, 59000, Lille, France

    Hèléne Huvenne

Authors
  1. Hèléne Huvenne
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  2. Béatrice Dubern
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Correspondence to Béatrice Dubern .

Editor information

Editors and Affiliations

  1. Cntr for Neurosciences and Cell Biology University of Coimbra, Coimbra, Portugal

    Clévio Nóbrega

  2. Nutrition and Gastroenterology Department, Armand-Trousseau Hospital, Valencia, Spain

    Raquel Rodriguez-López

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Huvenne, H., Dubern, B. (2014). Monogenic Forms of Obesity. In: Nóbrega, C., Rodriguez-López, R. (eds) Molecular Mechanisms Underpinning the Development of Obesity. Springer, Cham. https://doi.org/10.1007/978-3-319-12766-8_2

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